Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease

Abstract

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1, MIM#302800) is the second most common cause of hereditary neuropathy and is due to mutations in GJB1 , which codes for connexin 32 (Cx32). In most cases, GJB1 mutation only causes a progressive sensorimotor neuropathy that preferentially affects men. Transient neurologic features have been described infrequently in CMTX1, usually presenting in childhood.1,–,5 Here we describe recurrent stroke-like episodes in a man with CMTX1. ### Case report. In July 2008, a 21-year-old man presented with sudden onset left face and arm weakness and dysarthria lasting 5 hours without any obvious cause. This recurred the next day but additionally involved the left leg and lasted for 10 hours. A third episode occurred 2 weeks later on the right side, and persisted for several days. There was a family history of recurrent deep venous thrombosis but no other risk factors for stroke. His maternal grandfather had a clinical diagnosis of Charcot-Marie-Tooth disease as did his mother who was mildly affected but also had bilateral sensorineural hearing loss. The family did not have a genetic diagnosis but nerve conduction studies …